title: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D).
abstract: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a progressive genetic cardiomyopathy characterized by progressive fatty and fibrous replacement of ventricular myocardium. The clinical presentation is marked by ventricular arrhythmias, some fatal. The disease has evolved from a primary electrical/electrophysiological disorder (in the 1980s-1990s) to a diagnostic imaging conundrum (in the 2000s) to the current day understanding of a genetic cardiomyopathy caused by defects in cell-cell adhesion proteins or intracellular signaling components. The pathogenesis, clinical presentation, and the genetics of the disease are discussed in this review.
authors.affiliation: Perelman School of Medicine, University of Pennsylvania, PA, USA.
authors.forename: V Ramesh
authors.initials: VR
authors.lastname: Iyer
authors.forename: Alvin J
authors.initials: AJ
authors.lastname: Chin
mesh_terms: D000818:Animals; D001145:Arrhythmias, Cardiac / Q000235:genetics* / Q000503:physiopathology; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D015815:Cell Adhesion Molecules / Q000502:physiology; D003896:Desmosomes / Q000502:physiology; D003937:Diagnosis, Differential; D004195:Disease Models, Animal; D006352:Heart Ventricles / Q000002:abnormalities* / Q000503:physiopathology; D006801:Humans
chemical_list: D015815:Cell Adhesion Molecules
keywords: arrhythmogenic right ventricular cardiomyopathy; desmosome; ventricular arrhythmias; ventricular dysplasia